Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 17 58030413 58030413 + Silent SNP G G T TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr17:58030413G>T c.1233C>A c.(1231-1233)ctC>ctA p.L411L BLCA 17 58040312 58040312 + Silent SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 g.chr17:58040312G>A c.390C>T c.(388-390)gcC>gcT p.A130A BLCA 17 58040406 58040406 + Missense_Mutation SNP A A G TCGA-K4-AAQO-01A-11D-A38G-08 TCGA-K4-AAQO-10A-01D-A38J-08 g.chr17:58040406A>G c.296T>C c.(295-297)aTa>aCa p.I99T BLCA 17 58040588 58040588 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 g.chr17:58040588C>T c.114G>A c.(112-114)atG>atA p.M38I BLCA 17 58040624 58040624 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr17:58040624C>G c.78G>C c.(76-78)aaG>aaC p.K26N BRCA 17 58034639 58034639 + Missense_Mutation SNP G G T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 g.chr17:58034639G>T c.951C>A c.(949-951)aaC>aaA p.N317K BRCA 17 58039977 58039977 + Splice_Site SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr17:58039977C>T c.515G>A c.(514-516)gGa>gAa p.G172E BRCA 17 58040604 58040604 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr17:58040604T>C c.98A>G c.(97-99)aAg>aGg p.K33R COAD 17 58033867 58033867 + Silent SNP T T C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:58033867T>C c.1053A>G c.(1051-1053)cgA>cgG p.R351R COAD 17 58034652 58034652 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:58034652C>T c.938G>A c.(937-939)gGg>gAg p.G313E COAD 17 58039939 58039939 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr17:58039939A>G c.553T>C c.(553-555)Tat>Cat p.Y185H COAD 17 58040581 58040581 + Missense_Mutation SNP T T C TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr17:58040581T>C c.121A>G c.(121-123)Aat>Gat p.N41D COADREAD 17 58033867 58033867 + Silent SNP T T C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:58033867T>C c.1053A>G c.(1051-1053)cgA>cgG p.R351R COADREAD 17 58034652 58034652 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:58034652C>T c.938G>A c.(937-939)gGg>gAg p.G313E COADREAD 17 58039939 58039939 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr17:58039939A>G c.553T>C c.(553-555)Tat>Cat p.Y185H COADREAD 17 58040581 58040581 + Missense_Mutation SNP T T C TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr17:58040581T>C c.121A>G c.(121-123)Aat>Gat p.N41D DLBC 17 58034594 58034594 + Silent SNP G G A TCGA-GS-A9TW-01A-11D-A382-10 TCGA-GS-A9TW-10A-01D-A385-10 g.chr17:58034594G>A c.996C>T c.(994-996)ctC>ctT p.L332L ESCA 17 58040251 58040251 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr17:58040251G>A c.451C>T c.(451-453)Ctg>Ttg p.L151L ESCA 17 58040592 58040592 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 g.chr17:58040592G>A c.110C>T c.(109-111)gCc>gTc p.A37V HNSC 17 58040503 58040503 + Silent SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 g.chr17:58040503A>G c.199T>C c.(199-201)Ttg>Ctg p.L67L HNSC 17 58040557 58040557 + Missense_Mutation SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 g.chr17:58040557G>A c.145C>T c.(145-147)Cca>Tca p.P49S LUAD 17 58035664 58035664 + Silent SNP A A G TCGA-17-Z050-01A-01W-0747-08 TCGA-17-Z050-11A-01W-0747-08 g.chr17:58035664A>G c.834T>C c.(832-834)ccT>ccC p.P278P LUSC 17 58040334 58040334 + Missense_Mutation SNP G G A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr17:58040334G>A c.368C>T c.(367-369)gCa>gTa p.A123V LUSC 17 58040566 58040567 + Missense_Mutation DNP GC GC TT TCGA-22-4591-01A-01D-1267-08 TCGA-22-4591-11A-01D-1267-08 g.chr17:58040566_58040567GC>TT c.135_136GC>AA c.(133-138)ctGCac>ctAAac p.H46N LUSC 17 58040613 58040613 + Missense_Mutation SNP G G A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 g.chr17:58040613G>A c.89C>T c.(88-90)tCa>tTa p.S30L PAAD 17 58033915 58033915 + Splice_Site SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:58033915C>A c.e7-1 SKCM 17 58030417 58030417 + Missense_Mutation SNP G G C TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr17:58030417G>C c.1229C>G c.(1228-1230)cCa>cGa p.P410R SKCM 17 58031471 58031471 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr17:58031471C>T c.1108G>A c.(1108-1110)Gat>Aat p.D370N SKCM 17 58034687 58034687 + Silent SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr17:58034687G>A c.903C>T c.(901-903)ccC>ccT p.P301P

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 17 58040225 58040225 single base substitution C T exon_variant BLCA-CN 17 58040225 58040225 single base substitution C T intron_variant BLCA-CN 17 58040225 58040225 single base substitution C T synonymous_variant L122L 366G>A BLCA-CN 17 58040225 58040225 single base substitution C T synonymous_variant L159L 477G>A BLCA-CN 17 58040225 58040225 single base substitution C T upstream_gene_variant BLCA-US 17 58040588 58040588 single base substitution C T exon_variant BLCA-US 17 58040588 58040588 single base substitution C T missense_variant M38I 114G>A BLCA-US 17 58040588 58040588 single base substitution C T start_lost M1I 3G>A BLCA-US 17 58040588 58040588 single base substitution C T upstream_gene_variant BLCA-US 17 58040624 58040624 single base substitution C G 5_prime_UTR_variant BLCA-US 17 58040624 58040624 single base substitution C G exon_variant BLCA-US 17 58040624 58040624 single base substitution C G missense_variant K26N 78G>C BLCA-US 17 58040624 58040624 single base substitution C G upstream_gene_variant BRCA-EU 17 58025059 58025059 single base substitution T C downstream_gene_variant BRCA-EU 17 58025076 58025076 single base substitution T A downstream_gene_variant BRCA-EU 17 58025810 58025810 single base substitution G C downstream_gene_variant BRCA-EU 17 58026960 58026960 single base substitution G A downstream_gene_variant BRCA-EU 17 58027010 58027010 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 58027168 58027174 deletion of <=200bp ATGAATG - downstream_gene_variant BRCA-EU 17 58027242 58027242 single base substitution A G downstream_gene_variant BRCA-EU 17 58027916 58027916 single base substitution A G downstream_gene_variant BRCA-EU 17 58028085 58028085 single base substitution G C downstream_gene_variant BRCA-EU 17 58028092 58028092 single base substitution C G downstream_gene_variant BRCA-EU 17 58028569 58028569 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 58032147 58032147 single base substitution A C downstream_gene_variant BRCA-EU 17 58032147 58032147 single base substitution A C intron_variant BRCA-EU 17 58033711 58033711 single base substitution A C downstream_gene_variant BRCA-EU 17 58033711 58033711 single base substitution A C intron_variant BRCA-EU 17 58033794 58033794 single base substitution T A downstream_gene_variant BRCA-EU 17 58033794 58033794 single base substitution T A intron_variant BRCA-EU 17 58034082 58034082 single base substitution G C downstream_gene_variant BRCA-EU 17 58034082 58034082 single base substitution G C intron_variant BRCA-EU 17 58034666 58034666 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 58034666 58034666 single base substitution G A downstream_gene_variant BRCA-EU 17 58034666 58034666 single base substitution G A exon_variant BRCA-EU 17 58034666 58034666 single base substitution G A synonymous_variant Y308Y 924C>T BRCA-EU 17 58034901 58034901 single base substitution C T downstream_gene_variant BRCA-EU 17 58034901 58034901 single base substitution C T intron_variant BRCA-EU 17 58035965 58035965 single base substitution C G downstream_gene_variant BRCA-EU 17 58035965 58035965 single base substitution C G exon_variant BRCA-EU 17 58035965 58035965 single base substitution C G intron_variant BRCA-EU 17 58035968 58035969 deletion of <=200bp AA - downstream_gene_variant BRCA-EU 17 58035968 58035969 deletion of <=200bp AA - exon_variant BRCA-EU 17 58035968 58035969 deletion of <=200bp AA - intron_variant BRCA-EU 17 58036077 58036077 single base substitution A T downstream_gene_variant BRCA-EU 17 58036077 58036077 single base substitution A T intron_variant BRCA-EU 17 58036077 58036077 single base substitution A T upstream_gene_variant BRCA-EU 17 58036178 58036178 single base substitution C T downstream_gene_variant BRCA-EU 17 58036178 58036178 single base substitution C T intron_variant BRCA-EU 17 58036178 58036178 single base substitution C T upstream_gene_variant BRCA-EU 17 58036492 58036492 single base substitution C G downstream_gene_variant BRCA-EU 17 58036492 58036492 single base substitution C G intron_variant BRCA-EU 17 58036492 58036492 single base substitution C G upstream_gene_variant BRCA-EU 17 58036919 58036919 single base substitution A T downstream_gene_variant BRCA-EU 17 58036919 58036919 single base substitution A T exon_variant BRCA-EU 17 58036919 58036919 single base substitution A T intron_variant BRCA-EU 17 58036919 58036919 single base substitution A T upstream_gene_variant BRCA-EU 17 58037163 58037163 single base substitution C T downstream_gene_variant BRCA-EU 17 58037163 58037163 single base substitution C T exon_variant BRCA-EU 17 58037163 58037163 single base substitution C T intron_variant BRCA-EU 17 58037163 58037163 single base substitution C T upstream_gene_variant BRCA-EU 17 58037322 58037322 single base substitution A T downstream_gene_variant BRCA-EU 17 58037322 58037322 single base substitution A T exon_variant BRCA-EU 17 58037322 58037322 single base substitution A T intron_variant BRCA-EU 17 58037322 58037322 single base substitution A T upstream_gene_variant BRCA-EU 17 58038574 58038574 deletion of <=200bp T - downstream_gene_variant BRCA-EU 17 58038574 58038574 deletion of <=200bp T - intron_variant BRCA-EU 17 58038574 58038574 deletion of <=200bp T - upstream_gene_variant BRCA-EU 17 58038925 58038925 single base substitution C G downstream_gene_variant BRCA-EU 17 58038925 58038925 single base substitution C G intron_variant BRCA-EU 17 58038925 58038925 single base substitution C G upstream_gene_variant BRCA-EU 17 58038977 58038977 single base substitution C T downstream_gene_variant BRCA-EU 17 58038977 58038977 single base substitution C T intron_variant BRCA-EU 17 58038977 58038977 single base substitution C T upstream_gene_variant BRCA-EU 17 58039002 58039002 single base substitution A G downstream_gene_variant BRCA-EU 17 58039002 58039002 single base substitution A G intron_variant BRCA-EU 17 58039002 58039002 single base substitution A G upstream_gene_variant BRCA-EU 17 58039320 58039320 single base substitution C T downstream_gene_variant BRCA-EU 17 58039320 58039320 single base substitution C T intron_variant BRCA-EU 17 58039320 58039320 single base substitution C T upstream_gene_variant BRCA-EU 17 58039497 58039497 single base substitution C T downstream_gene_variant BRCA-EU 17 58039497 58039497 single base substitution C T intron_variant BRCA-EU 17 58039497 58039497 single base substitution C T upstream_gene_variant BRCA-EU 17 58041289 58041289 single base substitution G T intron_variant BRCA-EU 17 58041289 58041289 single base substitution G T upstream_gene_variant BRCA-EU 17 58041339 58041339 single base substitution C A intron_variant BRCA-EU 17 58041339 58041339 single base substitution C A upstream_gene_variant BRCA-EU 17 58041535 58041535 single base substitution C G intron_variant BRCA-EU 17 58041535 58041535 single base substitution C G upstream_gene_variant BRCA-EU 17 58041702 58041702 single base substitution G T intron_variant BRCA-EU 17 58041702 58041702 single base substitution G T upstream_gene_variant BRCA-EU 17 58042132 58042132 insertion of <=200bp - CG upstream_gene_variant BRCA-EU 17 58042316 58042316 single base substitution C G upstream_gene_variant BRCA-EU 17 58042894 58042894 single base substitution C T upstream_gene_variant BRCA-EU 17 58044223 58044223 single base substitution G A upstream_gene_variant BRCA-EU 17 58044692 58044692 single base substitution G T upstream_gene_variant BRCA-EU 17 58045321 58045321 single base substitution C T upstream_gene_variant BRCA-EU 17 58046812 58046812 single base substitution A C upstream_gene_variant BRCA-FR 17 58026960 58026960 single base substitution G A downstream_gene_variant BRCA-FR 17 58032147 58032147 single base substitution A C downstream_gene_variant BRCA-FR 17 58032147 58032147 single base substitution A C intron_variant BRCA-FR 17 58036492 58036492 single base substitution C G downstream_gene_variant BRCA-FR 17 58036492 58036492 single base substitution C G intron_variant BRCA-FR 17 58036492 58036492 single base substitution C G upstream_gene_variant BRCA-FR 17 58037163 58037163 single base substitution C T downstream_gene_variant BRCA-FR 17 58037163 58037163 single base substitution C T exon_variant BRCA-FR 17 58037163 58037163 single base substitution C T intron_variant BRCA-FR 17 58037163 58037163 single base substitution C T upstream_gene_variant BRCA-FR 17 58038925 58038925 single base substitution C G downstream_gene_variant BRCA-FR 17 58038925 58038925 single base substitution C G intron_variant BRCA-FR 17 58038925 58038925 single base substitution C G upstream_gene_variant BRCA-FR 17 58039497 58039497 single base substitution C T downstream_gene_variant BRCA-FR 17 58039497 58039497 single base substitution C T intron_variant BRCA-FR 17 58039497 58039497 single base substitution C T upstream_gene_variant BRCA-FR 17 58041535 58041535 single base substitution C G intron_variant BRCA-FR 17 58041535 58041535 single base substitution C G upstream_gene_variant BRCA-FR 17 58041702 58041702 single base substitution G T intron_variant BRCA-FR 17 58041702 58041702 single base substitution G T upstream_gene_variant BRCA-FR 17 58041871 58041871 single base substitution C A intron_variant BRCA-FR 17 58041871 58041871 single base substitution C A upstream_gene_variant BRCA-FR 17 58044223 58044223 single base substitution G A upstream_gene_variant BRCA-UK 17 58027333 58027333 single base substitution G A downstream_gene_variant BRCA-UK 17 58033794 58033794 single base substitution T A downstream_gene_variant BRCA-UK 17 58033794 58033794 single base substitution T A intron_variant BRCA-UK 17 58044692 58044692 single base substitution G T upstream_gene_variant BRCA-US 17 58034639 58034639 single base substitution G T 3_prime_UTR_variant BRCA-US 17 58034639 58034639 single base substitution G T downstream_gene_variant BRCA-US 17 58034639 58034639 single base substitution G T exon_variant BRCA-US 17 58034639 58034639 single base substitution G T missense_variant N317K 951C>A BRCA-US 17 58039977 58039977 single base substitution C T intron_variant BRCA-US 17 58039977 58039977 single base substitution C T missense_variant G137E 410G>A BRCA-US 17 58039977 58039977 single base substitution C T missense_variant G172E 515G>A BRCA-US 17 58039977 58039977 single base substitution C T splice_region_variant BRCA-US 17 58039977 58039977 single base substitution C T upstream_gene_variant BRCA-US 17 58040604 58040604 single base substitution T C 5_prime_UTR_variant BRCA-US 17 58040604 58040604 single base substitution T C exon_variant BRCA-US 17 58040604 58040604 single base substitution T C missense_variant K33R 98A>G BRCA-US 17 58040604 58040604 single base substitution T C upstream_gene_variant BTCA-JP 17 58024909 58024909 deletion of <=200bp A - downstream_gene_variant BTCA-JP 17 58033874 58033874 single base substitution A C 3_prime_UTR_variant BTCA-JP 17 58033874 58033874 single base substitution A C downstream_gene_variant BTCA-JP 17 58033874 58033874 single base substitution A C exon_variant BTCA-JP 17 58033874 58033874 single base substitution A C missense_variant V349G 1046T>G BTCA-JP 17 58033903 58033903 single base substitution A C 3_prime_UTR_variant BTCA-JP 17 58033903 58033903 single base substitution A C downstream_gene_variant BTCA-JP 17 58033903 58033903 single base substitution A C exon_variant BTCA-JP 17 58033903 58033903 single base substitution A C missense_variant F339L 1017T>G BTCA-JP 17 58033904 58033904 single base substitution A G 3_prime_UTR_variant BTCA-JP 17 58033904 58033904 single base substitution A G downstream_gene_variant BTCA-JP 17 58033904 58033904 single base substitution A G exon_variant BTCA-JP 17 58033904 58033904 single base substitution A G missense_variant F339S 1016T>C BTCA-JP 17 58041947 58041947 single base substitution G A intron_variant BTCA-JP 17 58041947 58041947 single base substitution G A upstream_gene_variant CLLE-ES 17 58046808 58046808 single base substitution G A upstream_gene_variant COAD-US 17 58033867 58033867 single base substitution T C 3_prime_UTR_variant COAD-US 17 58033867 58033867 single base substitution T C downstream_gene_variant COAD-US 17 58033867 58033867 single base substitution T C exon_variant COAD-US 17 58033867 58033867 single base substitution T C synonymous_variant R351R 1053A>G COAD-US 17 58034652 58034652 single base substitution C T 3_prime_UTR_variant COAD-US 17 58034652 58034652 single base substitution C T downstream_gene_variant COAD-US 17 58034652 58034652 single base substitution C T exon_variant COAD-US 17 58034652 58034652 single base substitution C T missense_variant G313E 938G>A COAD-US 17 58039935 58039935 single base substitution G A exon_variant COAD-US 17 58039935 58039935 single base substitution G A intron_variant COAD-US 17 58039935 58039935 single base substitution G A missense_variant A151V 452C>T COAD-US 17 58039935 58039935 single base substitution G A missense_variant A186V 557C>T COAD-US 17 58039935 58039935 single base substitution G A upstream_gene_variant COCA-CN 17 58033838 58033838 single base substitution A C downstream_gene_variant COCA-CN 17 58033838 58033838 single base substitution A C intron_variant COCA-CN 17 58040134 58040134 single base substitution G T intron_variant COCA-CN 17 58040134 58040134 single base substitution G T upstream_gene_variant COCA-CN 17 58040599 58040599 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 17 58040599 58040599 single base substitution A C exon_variant COCA-CN 17 58040599 58040599 single base substitution A C missense_variant L35V 103T>G COCA-CN 17 58040599 58040599 single base substitution A C upstream_gene_variant ESAD-UK 17 58028322 58028322 single base substitution A G downstream_gene_variant ESAD-UK 17 58030190 58030190 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 58030190 58030190 single base substitution C T downstream_gene_variant ESAD-UK 17 58031939 58031939 single base substitution G A downstream_gene_variant ESAD-UK 17 58031939 58031939 single base substitution G A intron_variant ESAD-UK 17 58033481 58033481 single base substitution G A downstream_gene_variant ESAD-UK 17 58033481 58033481 single base substitution G A intron_variant ESAD-UK 17 58036254 58036255 deletion of <=200bp AC - downstream_gene_variant ESAD-UK 17 58036254 58036255 deletion of <=200bp AC - intron_variant ESAD-UK 17 58036254 58036255 deletion of <=200bp AC - upstream_gene_variant ESAD-UK 17 58037901 58037901 single base substitution G A downstream_gene_variant ESAD-UK 17 58037901 58037901 single base substitution G A intron_variant ESAD-UK 17 58037901 58037901 single base substitution G A upstream_gene_variant ESAD-UK 17 58041170 58041170 single base substitution A G intron_variant ESAD-UK 17 58041170 58041170 single base substitution A G upstream_gene_variant ESAD-UK 17 58044464 58044464 single base substitution T G upstream_gene_variant ESAD-UK 17 58046227 58046227 single base substitution T C upstream_gene_variant ESAD-UK 17 58046377 58046377 single base substitution G A upstream_gene_variant ESCA-CN 17 58024908 58024908 insertion of <=200bp - A downstream_gene_variant ESCA-CN 17 58040342 58040342 single base substitution G A exon_variant ESCA-CN 17 58040342 58040342 single base substitution G A synonymous_variant H120H 360C>T ESCA-CN 17 58040342 58040342 single base substitution G A synonymous_variant H83H 249C>T ESCA-CN 17 58040342 58040342 single base substitution G A upstream_gene_variant LAML-KR 17 58037413 58037413 single base substitution T C downstream_gene_variant LAML-KR 17 58037413 58037413 single base substitution T C exon_variant LAML-KR 17 58037413 58037413 single base substitution T C intron_variant LAML-KR 17 58037413 58037413 single base substitution T C upstream_gene_variant LAML-KR 17 58043267 58043267 single base substitution G C upstream_gene_variant LAML-KR 17 58043277 58043277 single base substitution G A upstream_gene_variant LINC-JP 17 58030277 58030277 single base substitution T C 3_prime_UTR_variant LINC-JP 17 58030277 58030277 single base substitution T C downstream_gene_variant LINC-JP 17 58030364 58030364 single base substitution T G 3_prime_UTR_variant LINC-JP 17 58030364 58030364 single base substitution T G downstream_gene_variant LINC-JP 17 58030364 58030364 single base substitution T G missense_variant T428P 1282A>C LINC-JP 17 58033925 58033925 insertion of <=200bp - A downstream_gene_variant LINC-JP 17 58033925 58033925 insertion of <=200bp - A intron_variant LINC-JP 17 58035427 58035434 deletion of <=200bp ATTTTAAA - downstream_gene_variant LINC-JP 17 58035427 58035434 deletion of <=200bp ATTTTAAA - intron_variant LINC-JP 17 58036265 58036265 single base substitution T G downstream_gene_variant LINC-JP 17 58036265 58036265 single base substitution T G intron_variant LINC-JP 17 58036265 58036265 single base substitution T G upstream_gene_variant LINC-JP 17 58038703 58038703 single base substitution A G downstream_gene_variant LINC-JP 17 58038703 58038703 single base substitution A G intron_variant LINC-JP 17 58038703 58038703 single base substitution A G upstream_gene_variant LINC-JP 17 58040676 58040676 single base substitution A G intron_variant LINC-JP 17 58040676 58040676 single base substitution A G upstream_gene_variant LINC-JP 17 58041928 58041928 insertion of <=200bp - CCTCGCCG intron_variant LINC-JP 17 58041928 58041928 insertion of <=200bp - CCTCGCCG upstream_gene_variant LINC-JP 17 58045539 58045539 single base substitution A G upstream_gene_variant LIRI-JP 17 58024803 58024803 single base substitution T C downstream_gene_variant LIRI-JP 17 58027517 58027517 single base substitution A G downstream_gene_variant LIRI-JP 17 58030005 58030005 single base substitution A G 3_prime_UTR_variant LIRI-JP 17 58030005 58030005 single base substitution A G downstream_gene_variant LIRI-JP 17 58031151 58031151 single base substitution A G downstream_gene_variant LIRI-JP 17 58031151 58031151 single base substitution A G intron_variant LIRI-JP 17 58031435 58031435 single base substitution A C 3_prime_UTR_variant LIRI-JP 17 58031435 58031435 single base substitution A C downstream_gene_variant LIRI-JP 17 58031435 58031435 single base substitution A C exon_variant LIRI-JP 17 58031435 58031435 single base substitution A C missense_variant F382V 1144T>G LIRI-JP 17 58031442 58031442 single base substitution T G 3_prime_UTR_variant LIRI-JP 17 58031442 58031442 single base substitution T G downstream_gene_variant LIRI-JP 17 58031442 58031442 single base substitution T G exon_variant LIRI-JP 17 58031442 58031442 single base substitution T G missense_variant Q379H 1137A>C LIRI-JP 17 58033903 58033903 single base substitution A C 3_prime_UTR_variant LIRI-JP 17 58033903 58033903 single base substitution A C downstream_gene_variant LIRI-JP 17 58033903 58033903 single base substitution A C exon_variant LIRI-JP 17 58033903 58033903 single base substitution A C missense_variant F339L 1017T>G LIRI-JP 17 58034021 58034021 single base substitution T C downstream_gene_variant LIRI-JP 17 58034021 58034021 single base substitution T C intron_variant LIRI-JP 17 58035428 58035428 single base substitution T C downstream_gene_variant LIRI-JP 17 58035428 58035428 single base substitution T C intron_variant LIRI-JP 17 58035535 58035535 single base substitution A C downstream_gene_variant LIRI-JP 17 58035535 58035535 single base substitution A C intron_variant LIRI-JP 17 58035807 58035807 single base substitution T C downstream_gene_variant LIRI-JP 17 58035807 58035807 single base substitution T C exon_variant LIRI-JP 17 58035807 58035807 single base substitution T C splice_acceptor_variant LIRI-JP 17 58036251 58036251 single base substitution T G downstream_gene_variant LIRI-JP 17 58036251 58036251 single base substitution T G intron_variant LIRI-JP 17 58036251 58036251 single base substitution T G upstream_gene_variant LIRI-JP 17 58037048 58037048 single base substitution G A downstream_gene_variant LIRI-JP 17 58037048 58037048 single base substitution G A exon_variant LIRI-JP 17 58037048 58037048 single base substitution G A intron_variant LIRI-JP 17 58037048 58037048 single base substitution G A upstream_gene_variant LIRI-JP 17 58037619 58037619 single base substitution A G downstream_gene_variant LIRI-JP 17 58037619 58037619 single base substitution A G intron_variant LIRI-JP 17 58037619 58037619 single base substitution A G upstream_gene_variant LIRI-JP 17 58038898 58038898 single base substitution T C downstream_gene_variant LIRI-JP 17 58038898 58038898 single base substitution T C intron_variant LIRI-JP 17 58038898 58038898 single base substitution T C upstream_gene_variant LIRI-JP 17 58039933 58039933 single base substitution T G exon_variant LIRI-JP 17 58039933 58039933 single base substitution T G intron_variant LIRI-JP 17 58039933 58039933 single base substitution T G missense_variant N152H 454A>C LIRI-JP 17 58039933 58039933 single base substitution T G missense_variant N187H 559A>C LIRI-JP 17 58039933 58039933 single base substitution T G upstream_gene_variant LIRI-JP 17 58041266 58041266 single base substitution A C intron_variant LIRI-JP 17 58041266 58041266 single base substitution A C upstream_gene_variant LIRI-JP 17 58042055 58042055 single base substitution T C 5_prime_UTR_variant LIRI-JP 17 58042055 58042055 single base substitution T C exon_variant LIRI-JP 17 58042055 58042055 single base substitution T C upstream_gene_variant LIRI-JP 17 58043700 58043700 single base substitution G T upstream_gene_variant LIRI-JP 17 58046959 58046959 single base substitution A G upstream_gene_variant LUSC-KR 17 58036332 58036332 single base substitution T C downstream_gene_variant LUSC-KR 17 58036332 58036332 single base substitution T C intron_variant LUSC-KR 17 58036332 58036332 single base substitution T C upstream_gene_variant LUSC-KR 17 58037818 58037818 single base substitution G A downstream_gene_variant LUSC-KR 17 58037818 58037818 single base substitution G A intron_variant LUSC-KR 17 58037818 58037818 single base substitution G A upstream_gene_variant LUSC-KR 17 58043383 58043383 single base substitution C A upstream_gene_variant LUSC-US 17 58040334 58040334 single base substitution G A exon_variant LUSC-US 17 58040334 58040334 single base substitution G A missense_variant A123V 368C>T LUSC-US 17 58040334 58040334 single base substitution G A missense_variant A86V 257C>T LUSC-US 17 58040334 58040334 single base substitution G A upstream_gene_variant LUSC-US 17 58040566 58040566 single base substitution G T exon_variant LUSC-US 17 58040566 58040566 single base substitution G T missense_variant H46N 136C>A LUSC-US 17 58040566 58040566 single base substitution G T missense_variant H9N 25C>A LUSC-US 17 58040566 58040566 single base substitution G T upstream_gene_variant LUSC-US 17 58040567 58040567 single base substitution C T exon_variant LUSC-US 17 58040567 58040567 single base substitution C T synonymous_variant L45L 135G>A LUSC-US 17 58040567 58040567 single base substitution C T synonymous_variant L8L 24G>A LUSC-US 17 58040567 58040567 single base substitution C T upstream_gene_variant LUSC-US 17 58040613 58040613 single base substitution G A 5_prime_UTR_variant LUSC-US 17 58040613 58040613 single base substitution G A exon_variant LUSC-US 17 58040613 58040613 single base substitution G A missense_variant S30L 89C>T LUSC-US 17 58040613 58040613 single base substitution G A upstream_gene_variant MALY-DE 17 58026839 58026839 deletion of <=200bp A - downstream_gene_variant MALY-DE 17 58028023 58028023 single base substitution T G downstream_gene_variant MALY-DE 17 58035759 58035759 insertion of <=200bp - CTT 3_prime_UTR_variant MALY-DE 17 58035759 58035759 insertion of <=200bp - CTT downstream_gene_variant MALY-DE 17 58035759 58035759 insertion of <=200bp - CTT exon_variant MALY-DE 17 58035759 58035759 insertion of <=200bp - CTT inframe_insertion V212EV MALY-DE 17 58035759 58035759 insertion of <=200bp - CTT inframe_insertion V247EV MELA-AU 17 58024633 58024633 single base substitution T C downstream_gene_variant MELA-AU 17 58025052 58025052 single base substitution C T downstream_gene_variant MELA-AU 17 58027109 58027109 single base substitution G A downstream_gene_variant MELA-AU 17 58028007 58028007 single base substitution T C downstream_gene_variant MELA-AU 17 58029697 58029697 single base substitution A T 3_prime_UTR_variant MELA-AU 17 58029697 58029697 single base substitution A T downstream_gene_variant MELA-AU 17 58029711 58029712 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 17 58029711 58029712 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 58030006 58030006 single base substitution G A 3_prime_UTR_variant MELA-AU 17 58030006 58030006 single base substitution G A downstream_gene_variant MELA-AU 17 58032294 58032294 single base substitution C T downstream_gene_variant MELA-AU 17 58032294 58032294 single base substitution C T intron_variant MELA-AU 17 58033113 58033113 single base substitution G A downstream_gene_variant MELA-AU 17 58033113 58033113 single base substitution G A intron_variant MELA-AU 17 58034328 58034328 single base substitution T A downstream_gene_variant MELA-AU 17 58034328 58034328 single base substitution T A intron_variant MELA-AU 17 58034701 58034701 single base substitution G T 3_prime_UTR_variant MELA-AU 17 58034701 58034701 single base substitution G T downstream_gene_variant MELA-AU 17 58034701 58034701 single base substitution G T exon_variant MELA-AU 17 58034701 58034701 single base substitution G T synonymous_variant R297R 889C>A MELA-AU 17 58034765 58034765 single base substitution A T downstream_gene_variant MELA-AU 17 58034765 58034765 single base substitution A T intron_variant MELA-AU 17 58034936 58034936 single base substitution G A downstream_gene_variant MELA-AU 17 58034936 58034936 single base substitution G A intron_variant MELA-AU 17 58035027 58035027 single base substitution G A downstream_gene_variant MELA-AU 17 58035027 58035027 single base substitution G A intron_variant MELA-AU 17 58035045 58035045 single base substitution A G downstream_gene_variant MELA-AU 17 58035045 58035045 single base substitution A G intron_variant MELA-AU 17 58035985 58035985 single base substitution C T downstream_gene_variant MELA-AU 17 58035985 58035985 single base substitution C T exon_variant MELA-AU 17 58035985 58035985 single base substitution C T intron_variant MELA-AU 17 58035985 58035985 single base substitution C T splice_region_variant MELA-AU 17 58036568 58036568 single base substitution C T downstream_gene_variant MELA-AU 17 58036568 58036568 single base substitution C T intron_variant MELA-AU 17 58036568 58036568 single base substitution C T upstream_gene_variant MELA-AU 17 58037085 58037085 single base substitution A G downstream_gene_variant MELA-AU 17 58037085 58037085 single base substitution A G exon_variant MELA-AU 17 58037085 58037085 single base substitution A G intron_variant MELA-AU 17 58037085 58037085 single base substitution A G upstream_gene_variant MELA-AU 17 58038442 58038442 single base substitution G A downstream_gene_variant MELA-AU 17 58038442 58038442 single base substitution G A intron_variant MELA-AU 17 58038442 58038442 single base substitution G A upstream_gene_variant MELA-AU 17 58041501 58041501 single base substitution C T intron_variant MELA-AU 17 58041501 58041501 single base substitution C T upstream_gene_variant MELA-AU 17 58041655 58041655 single base substitution T C intron_variant MELA-AU 17 58041655 58041655 single base substitution T C upstream_gene_variant MELA-AU 17 58041790 58041790 single base substitution T A intron_variant MELA-AU 17 58041790 58041790 single base substitution T A upstream_gene_variant MELA-AU 17 58044143 58044143 single base substitution A C upstream_gene_variant MELA-AU 17 58044196 58044196 single base substitution C T upstream_gene_variant MELA-AU 17 58044410 58044410 single base substitution C T upstream_gene_variant MELA-AU 17 58044814 58044814 single base substitution C T upstream_gene_variant MELA-AU 17 58044815 58044815 single base substitution C T upstream_gene_variant MELA-AU 17 58045094 58045094 single base substitution T G upstream_gene_variant MELA-AU 17 58046146 58046146 single base substitution C T upstream_gene_variant MELA-AU 17 58046224 58046224 single base substitution C T upstream_gene_variant MELA-AU 17 58046341 58046341 single base substitution A G upstream_gene_variant MELA-AU 17 58046584 58046584 single base substitution A C upstream_gene_variant MELA-AU 17 58047085 58047085 single base substitution G C upstream_gene_variant ORCA-IN 17 58035027 58035027 single base substitution G A downstream_gene_variant ORCA-IN 17 58035027 58035027 single base substitution G A intron_variant OV-AU 17 58045889 58045889 single base substitution T G upstream_gene_variant PACA-AU 17 58026738 58026738 insertion of <=200bp - TTA downstream_gene_variant PACA-AU 17 58030190 58030190 single base substitution C A 3_prime_UTR_variant PACA-AU 17 58030190 58030190 single base substitution C A downstream_gene_variant PACA-AU 17 58032586 58032586 single base substitution G C downstream_gene_variant PACA-AU 17 58032586 58032586 single base substitution G C intron_variant PACA-AU 17 58032587 58032587 single base substitution G T downstream_gene_variant PACA-AU 17 58032587 58032587 single base substitution G T intron_variant PACA-AU 17 58032843 58032843 single base substitution G C downstream_gene_variant PACA-AU 17 58032843 58032843 single base substitution G C intron_variant PACA-AU 17 58033133 58033133 single base substitution A T downstream_gene_variant PACA-AU 17 58033133 58033133 single base substitution A T intron_variant PACA-AU 17 58034667 58034667 single base substitution T C 3_prime_UTR_variant PACA-AU 17 58034667 58034667 single base substitution T C downstream_gene_variant PACA-AU 17 58034667 58034667 single base substitution T C exon_variant PACA-AU 17 58034667 58034667 single base substitution T C missense_variant Y308C 923A>G PACA-AU 17 58041104 58041104 single base substitution C T intron_variant PACA-AU 17 58041104 58041104 single base substitution C T upstream_gene_variant PACA-AU 17 58042193 58042193 single base substitution T A upstream_gene_variant PACA-AU 17 58044375 58044375 single base substitution A G upstream_gene_variant PACA-AU 17 58045648 58045648 single base substitution G A upstream_gene_variant PACA-CA 17 58025055 58025055 single base substitution C A downstream_gene_variant PACA-CA 17 58026790 58026790 deletion of <=200bp T - downstream_gene_variant PACA-CA 17 58027346 58027346 single base substitution G T downstream_gene_variant PACA-CA 17 58027635 58027635 single base substitution A G downstream_gene_variant PACA-CA 17 58027910 58027910 single base substitution C G downstream_gene_variant PACA-CA 17 58031643 58031643 single base substitution C G downstream_gene_variant PACA-CA 17 58031643 58031643 single base substitution C G intron_variant PACA-CA 17 58035348 58035348 single base substitution T C downstream_gene_variant PACA-CA 17 58035348 58035348 single base substitution T C intron_variant PACA-CA 17 58042296 58042296 single base substitution G T upstream_gene_variant PACA-CA 17 58044923 58044923 single base substitution G A upstream_gene_variant PACA-CA 17 58045983 58045983 single base substitution G C upstream_gene_variant PAEN-IT 17 58025512 58025512 single base substitution A C downstream_gene_variant PRAD-UK 17 58029884 58029884 single base substitution T C 3_prime_UTR_variant PRAD-UK 17 58029884 58029884 single base substitution T C downstream_gene_variant PRAD-UK 17 58039611 58039624 deletion of <=200bp GACTTGCCAAATCA - downstream_gene_variant PRAD-UK 17 58039611 58039624 deletion of <=200bp GACTTGCCAAATCA - intron_variant PRAD-UK 17 58039611 58039624 deletion of <=200bp GACTTGCCAAATCA - upstream_gene_variant RECA-EU 17 58024858 58024858 single base substitution C T downstream_gene_variant RECA-EU 17 58031138 58031138 single base substitution A G downstream_gene_variant RECA-EU 17 58031138 58031138 single base substitution A G intron_variant RECA-EU 17 58032690 58032690 single base substitution T C downstream_gene_variant RECA-EU 17 58032690 58032690 single base substitution T C intron_variant RECA-EU 17 58032887 58032887 single base substitution A G downstream_gene_variant RECA-EU 17 58032887 58032887 single base substitution A G intron_variant SKCA-BR 17 58036499 58036499 single base substitution A C downstream_gene_variant SKCA-BR 17 58036499 58036499 single base substitution A C intron_variant SKCA-BR 17 58036499 58036499 single base substitution A C upstream_gene_variant SKCA-BR 17 58042758 58042758 single base substitution T G upstream_gene_variant SKCA-BR 17 58043011 58043011 single base substitution A G upstream_gene_variant SKCA-BR 17 58044833 58044833 single base substitution G C upstream_gene_variant SKCM-US 17 58031471 58031471 single base substitution C T 3_prime_UTR_variant SKCM-US 17 58031471 58031471 single base substitution C T downstream_gene_variant SKCM-US 17 58031471 58031471 single base substitution C T exon_variant SKCM-US 17 58031471 58031471 single base substitution C T missense_variant D370N 1108G>A SKCM-US 17 58034687 58034687 single base substitution G A 3_prime_UTR_variant SKCM-US 17 58034687 58034687 single base substitution G A downstream_gene_variant SKCM-US 17 58034687 58034687 single base substitution G A exon_variant SKCM-US 17 58034687 58034687 single base substitution G A synonymous_variant P301P 903C>T STAD-US 17 58033900 58033900 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 17 58033900 58033900 deletion of <=200bp A - downstream_gene_variant STAD-US 17 58033900 58033900 deletion of <=200bp A - exon_variant STAD-US 17 58033900 58033900 deletion of <=200bp A - frameshift_variant F340 STAD-US 17 58040311 58040311 single base substitution C T exon_variant STAD-US 17 58040311 58040311 single base substitution C T missense_variant A131T 391G>A STAD-US 17 58040311 58040311 single base substitution C T missense_variant A94T 280G>A STAD-US 17 58040311 58040311 single base substitution C T upstream_gene_variant STAD-US 17 58040355 58040355 single base substitution C T exon_variant STAD-US 17 58040355 58040355 single base substitution C T missense_variant R116Q 347G>A STAD-US 17 58040355 58040355 single base substitution C T missense_variant R79Q 236G>A STAD-US 17 58040355 58040355 single base substitution C T upstream_gene_variant STAD-US 17 58040394 58040394 single base substitution A G exon_variant STAD-US 17 58040394 58040394 single base substitution A G missense_variant V103A 308T>C STAD-US 17 58040394 58040394 single base substitution A G missense_variant V66A 197T>C STAD-US 17 58040394 58040394 single base substitution A G upstream_gene_variant THCA-US 17 58034708 58034708 single base substitution T C 3_prime_UTR_variant THCA-US 17 58034708 58034708 single base substitution T C downstream_gene_variant THCA-US 17 58034708 58034708 single base substitution T C exon_variant THCA-US 17 58034708 58034708 single base substitution T C synonymous_variant Q294Q 882A>G UCEC-US 17 58033868 58033868 single base substitution C T 3_prime_UTR_variant UCEC-US 17 58033868 58033868 single base substitution C T downstream_gene_variant UCEC-US 17 58033868 58033868 single base substitution C T exon_variant UCEC-US 17 58033868 58033868 single base substitution C T missense_variant R351Q 1052G>A UCEC-US 17 58033901 58033901 single base substitution A C 3_prime_UTR_variant UCEC-US 17 58033901 58033901 single base substitution A C downstream_gene_variant UCEC-US 17 58033901 58033901 single base substitution A C exon_variant UCEC-US 17 58033901 58033901 single base substitution A C missense_variant F340C 1019T>G UCEC-US 17 58035798 58035798 single base substitution A T 3_prime_UTR_variant UCEC-US 17 58035798 58035798 single base substitution A T downstream_gene_variant UCEC-US 17 58035798 58035798 single base substitution A T exon_variant UCEC-US 17 58035798 58035798 single base substitution A T missense_variant F199I 595T>A UCEC-US 17 58035798 58035798 single base substitution A T missense_variant F234I 700T>A UCEC-US 17 58037439 58037439 single base substitution G T downstream_gene_variant UCEC-US 17 58037439 58037439 single base substitution G T exon_variant UCEC-US 17 58037439 58037439 single base substitution G T intron_variant UCEC-US 17 58037439 58037439 single base substitution G T missense_variant L193I 577C>A UCEC-US 17 58037439 58037439 single base substitution G T missense_variant L228I 682C>A UCEC-US 17 58037439 58037439 single base substitution G T upstream_gene_variant UCEC-US 17 58041999 58041999 single base substitution G T 5_prime_UTR_variant UCEC-US 17 58041999 58041999 single base substitution G T exon_variant UCEC-US 17 58041999 58041999 single base substitution G T missense_variant P9Q 26C>A UCEC-US 17 58041999 58041999 single base substitution G T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-FD-A3N5-01 COSM1303132 c.114G>A p.M38I Substitution - Missense 17:59963227-59963227 - TCGA-A6-6650-01 COSM3691718 c.446C>T p.A149V Substitution - Missense 17:59962574-59962574 - 587222 COSM1224028 c.890G>A p.R297Q Substitution - Missense 17:59957339-59957339 - RK190_C01 COSM3742348 c.1017T>G p.F339L Substitution - Missense 17:59956542-59956542 - TCGA-EE-A2MT-06 COSM3520319 c.903C>T p.P301P Substitution - coding silent 17:59957326-59957326 - CSCC-6-T COSM4558103 c.755G>A p.G252E Substitution - Missense 17:59958382-59958382 - RK282_C01 COSM4964103 c.559A>C p.N187H Substitution - Missense 17:59962572-59962572 - CSCC-6-T COSM4558104 c.543G>A p.W181* Substitution - Nonsense 17:59958382-59958382 - BD121T COSM3742348 c.1017T>G p.F339L Substitution - Missense 17:59956542-59956542 - HX19T COSM1610558 c.1282A>C p.T428P Substitution - Missense 17:59953003-59953003 - S02402 COSM5700175 c.427C>G p.L143V Substitution - Missense 17:59962593-59962593 - TCGA-AN-A046-01 COSM3820101 c.515G>A p.G172E Substitution - Missense 17:59962616-59962616 - PD11766a COSM5795674 c.924C>T p.Y308Y Substitution - coding silent 17:59957305-59957305 - S02402 COSM5700174 c.538C>G p.L180V Substitution - Missense 17:59962593-59962593 - 587376 COSM1224029 c.1268G>A p.W423* Substitution - Nonsense 17:59953017-59953017 - BD173T COSM5500186 c.1016T>C p.F339S Substitution - Missense 17:59956543-59956543 - T3064 COSM4722219 c.920G>A p.R307H Substitution - Missense 17:59957309-59957309 - 3N46-VS-3T46 COSM4982484 c.1046T>C p.V349A Substitution - Missense 17:59956513-59956513 - TCGA-BL-A0C8-01 COSM1133496 c.390C>T p.A130A Substitution - coding silent 17:59962951-59962951 - TCGA-HU-A4G8-01 COSM4068339 c.308T>C p.V103A Substitution - Missense 17:59963033-59963033 - TCGA-B5-A0JY-01 COSM1589102 c.1019T>G p.F340C Substitution - Missense 17:59956540-59956540 - TCGA-BR-8591-01 COSM4068338 c.236G>A p.R79Q Substitution - Missense 17:59962994-59962994 - TCGA-22-4591-01 COSM706614 c.25C>A p.H9N Substitution - Missense 17:59963205-59963205 - pfg068T COSM4756057 c.322C>T p.R108C Substitution - Missense 17:59962908-59962908 - HN_62814 COSM125903 c.127C>G p.H43D Substitution - Missense 17:59963103-59963103 - T3152 COSM4722220 c.720C>G p.D240E Substitution - Missense 17:59958417-59958417 - RK282_C01 COSM4964104 c.448A>C p.N150H Substitution - Missense 17:59962572-59962572 - PD18280a COSM3770336 c.930_933delAAGC p.S311fs*7 Deletion - Frameshift 17:59957296-59957299 - RK280_C01 COSM4944001 c.481-2A>G p.? Unknown 17:59958446-59958446 - BN42T COSM1610558 c.1282A>C p.T428P Substitution - Missense 17:59953003-59953003 - 8016470 COSM3388063 c.923A>G p.Y308C Substitution - Missense 17:59957306-59957306 - TCGA-BR-8077-01 COSM4068336 c.280G>A p.A94T Substitution - Missense 17:59962950-59962950 - PT22_1 COSM5902397 c.610C>T p.Q204* Substitution - Nonsense 17:59960150-59960150 - TCGA-EL-A3GQ-01 COSM3370833 c.882A>G p.Q294Q Substitution - coding silent 17:59957347-59957347 - TCGA-AA-A00N-01 COSM277089 c.442T>C p.Y148H Substitution - Missense 17:59962578-59962578 - TCGA-39-5030-01 COSM706615 c.257C>T p.A86V Substitution - Missense 17:59962973-59962973 - Pat_41_B COSM5853129 c.374G>A p.S125N Substitution - Missense 17:59962856-59962856 - ESCC-010T COSM3937487 c.360C>T p.H120H Substitution - coding silent 17:59962981-59962981 - TCGA-AP-A0LF-01 COSM1153116 c.682C>A p.L228I Substitution - Missense 17:59960078-59960078 - TCGA-AN-A046-01 COSM3820102 c.404G>A p.G135E Substitution - Missense 17:59962616-59962616 - T3152 COSM4722221 c.508C>G p.P170A Substitution - Missense 17:59958417-59958417 - TCGA-DK-A2I4-01 COSM3795883 c.78G>C p.K26N Substitution - Missense 17:59963263-59963263 - TCGA-CM-5861-01 COSM1384935 c.938G>A p.G313E Substitution - Missense 17:59957291-59957291 - ESCC-010T COSM3937488 c.249C>T p.H83H Substitution - coding silent 17:59962981-59962981 - TCGA-D1-A16X-01 COSM1589103 c.1052G>A p.R351Q Substitution - Missense 17:59956507-59956507 - 413 COSM4431164 c.519_521delTCT p.L174delL Deletion - In frame 17:59958404-59958406 - pfg068T COSM4756056 c.433C>T p.R145C Substitution - Missense 17:59962908-59962908 - LUAD-S01315 COSM344568 c.996C>T p.L332L Substitution - coding silent 17:59957233-59957233 - B21-Tumor COSM1750207 c.477G>A p.L159L Substitution - coding silent 17:59962864-59962864 - B21 COSM1750207 c.477G>A p.L159L Substitution - coding silent 17:59962864-59962864 - TCGA-18-3411-01 COSM1147830 c.89C>T p.S30L Substitution - Missense 17:59963252-59963252 - B21-Tumor COSM1750208 c.366G>A p.L122L Substitution - coding silent 17:59962864-59962864 - TCGA-22-4591-01 COSM1147829 c.135G>A p.L45L Substitution - coding silent 17:59963206-59963206 - K-562 COSM1679980 c.517C>G p.L173V Substitution - Missense 17:59958408-59958408 - TCGA-A6-6650-01 COSM3691717 c.557C>T p.A186V Substitution - Missense 17:59962574-59962574 - 2493722 COSM5731575 c.902C>T p.P301L Substitution - Missense 17:59957327-59957327 - TCGA-BS-A0UV-01 COSM1589101 c.700T>A p.F234I Substitution - Missense 17:59958437-59958437 - CSCC-18-T COSM4520147 c.1044G>A p.Q348Q Substitution - coding silent 17:59956515-59956515 - TCGA-BR-8591-01 COSM4068337 c.347G>A p.R116Q Substitution - Missense 17:59962994-59962994 - TCGA-BS-A0UF-01 COSM1589103 c.1052G>A p.R351Q Substitution - Missense 17:59956507-59956507 - RK280_C01 COSM4944000 c.693-2A>G p.? Unknown 17:59958446-59958446 - TCGA-FD-A3N5-01 COSM1303133 c.3G>A p.M1I Substitution - Missense 17:59963227-59963227 - TCGA-AA-3821-01 COSM294781 c.10A>G p.N4D Substitution - Missense 17:59963220-59963220 - TCGA-EE-A29D-06 COSM3520318 c.1108G>A p.D370N Substitution - Missense 17:59954110-59954110 - TCGA-22-4591-01 COSM706612 c.24G>A p.L8L Substitution - coding silent 17:59963206-59963206 - TCGA-CK-4951-01 COSM5149490 c.263T>A p.L88Q Substitution - Missense 17:59962967-59962967 - 2334199 COSM323096 c.492T>A p.F164L Substitution - Missense 17:59958433-59958433 - TCGA-BS-A0UV-01 COSM982126 c.488T>A p.F163Y Substitution - Missense 17:59958437-59958437 - B21 COSM1750208 c.366G>A p.L122L Substitution - coding silent 17:59962864-59962864 - Pat_41_B COSM5853128 c.485G>A p.S162N Substitution - Missense 17:59962856-59962856 - TCGA-HU-A4G8-01 COSM4068340 c.197T>C p.V66A Substitution - Missense 17:59963033-59963033 - TCGA-BR-8077-01 COSM4068335 c.391G>A p.A131T Substitution - Missense 17:59962950-59962950 - TCGA-CA-6718-01 COSM1384934 c.1053A>G p.R351R Substitution - coding silent 17:59956506-59956506 - TCGA-AC-A2QI-01 COSM3820100 c.951C>A p.N317K Substitution - Missense 17:59957278-59957278 - CSCC-56-T COSM4572893 c.8T>G p.L3R Substitution - Missense 17:59964656-59964656 - TCGA-BL-A0C8-01 COSM417421 c.279C>T p.A93A Substitution - coding silent 17:59962951-59962951 - pfg068T COSM4756050 c.1014A>T p.E338D Substitution - Missense 17:59956545-59956545 - TCGA-39-5030-01 COSM1147826 c.368C>T p.A123V Substitution - Missense 17:59962973-59962973 - BN42 COSM1610558 c.1282A>C p.T428P Substitution - Missense 17:59953003-59953003 - RK131_C01 COSM3701247 c.1137A>C p.Q379H Substitution - Missense 17:59954081-59954081 - TCGA-AX-A063-01 COSM1589100 c.26C>A p.P9Q Substitution - Missense 17:59964638-59964638 - TCGA-22-4591-01 COSM1147827 c.136C>A p.H46N Substitution - Missense 17:59963205-59963205 - 413 COSM4431163 c.731_733delTCT p.F244delF Deletion - In frame 17:59958404-59958406 - K-562 COSM1679979 c.729C>G p.S243R Substitution - Missense 17:59958408-59958408 - TCGA-BH-A18G-01 COSM3820103 c.98A>G p.K33R Substitution - Missense 17:59963243-59963243 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.531701 17q23.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.F340Lfs*4 c.1020delT 17 58033900 STAD A T Nonsense p.L235* c.704T>A 17 58035794 SCLC C G Missense p.K26N c.78G>C 17 58040624 BLCA C T Missense p.M38I c.114G>A 17 58040588 BLCA C T Missense p.V210I c.628G>A 17 58037493 CM G A Missense p.A123V c.368C>T 17 58040334 LUSC G A Missense p.P49S c.145C>T 17 58040557 HNSC G A Missense p.S30L c.89C>T 17 58040613 LUSC G C Missense p.H80D c.238C>G 17 58040464 HNSC G C Missense p.P410R c.1229C>G 17 58030417 CM G T Missense p.H46N c.136C>A 17 58040566 LUSC G T Missense p.L228I c.682C>A 17 58037439 UCEC G T Missense p.P9Q c.26C>A 17 58041999 UCEC